title: Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.
abstract: Somatic and germline duplications of AKT3 and activating mutations of this gene have been reported in individuals with megalencephaly and hemimegalencephaly. We report on a patient with macrocephaly and a 3 Mb duplication on 1q43q44 that includes AKT3. This duplication was detected by array comparative genomic hybridization. The patient presented with moderate developmental delays in gross motor movements and speech. She also had macrocephaly, frontal bossing, hypertelorism, wide nasal bridge, small alae nares, short philtrum, prominent upper lip, and low-set, protruding ears. The 3 Mb duplicated region contained 15 genes including AKT3. The observation of megalencephaly in a child with 1q43q44 duplication provides further evidence of involvement of AKT3 dosage imbalances in brain growth disturbance.
authors.affiliation: Faculty of Medicine, University of Toronto, Toronto, Canada.
authors.forename: David
authors.initials: D
authors.lastname: Wang
authors.forename: Susan
authors.initials: S
authors.lastname: Zeesman
authors.forename: Mark A
authors.initials: MA
authors.lastname: Tarnopolsky
authors.forename: Małgorzata J M
authors.initials: MJ
authors.lastname: Nowaczyk
mesh_terms: D000293:Adolescent; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D058627:Megalencephaly / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D051057:Proto-Oncogene Proteins c-akt / Q000235:genetics*
chemical_list: C491754:AKT3 protein, human; D051057:Proto-Oncogene Proteins c-akt
keywords: 1q43q44; AKT3; duplication; intellectual disability; macrocephaly